Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs920162850
rs920162850
MCCC1
1 1.000 0.120 3 183086719 stop gained G/A snv 7.0E-06 0.700 0
dbSNP: rs905321122
rs905321122
MCCC1
1 1.000 0.120 3 183020177 stop gained C/A;G snv 4.0E-06 0.700 1.000 1 2012 2012
dbSNP: rs887877405
rs887877405
MCCC1
1 1.000 0.120 3 183041699 missense variant C/T snv 0.700 0
dbSNP: rs886058209
rs886058209
MCCC1
1 1.000 0.120 3 183071119 splice acceptor variant CC/- delins 4.0E-06 1.4E-05 0.700 0
dbSNP: rs796051985
rs796051985
MCCC1
1 1.000 0.120 3 183041640 frameshift variant CA/- delins 4.0E-06 1.4E-05 0.700 0
dbSNP: rs794727036
rs794727036
MCCC1
1 1.000 0.120 3 183041695 missense variant T/C;G snv 4.0E-06 0.700 0
dbSNP: rs776641008
rs776641008
MCCC1
1 1.000 0.120 3 183020102 splice donor variant TCATTCTACAGATGTCATGTGATTACCTTTTCA/- delins 0.700 1.000 3 2001 2012
dbSNP: rs773433541
rs773433541
MCCC1
1 1.000 0.120 3 183057358 missense variant A/C;G snv 8.1E-06 0.700 0
dbSNP: rs772395858
rs772395858
MCCC1
1 1.000 0.120 3 183071122 splice acceptor variant T/C snv 8.0E-06 0.700 1.000 4 2001 2016
dbSNP: rs768785753
rs768785753
MCCC1
1 1.000 0.120 3 183039072 missense variant C/T snv 2.8E-05 3.5E-05 0.700 1.000 11 2001 2016
dbSNP: rs762463914
rs762463914
MCCC1
1 1.000 0.120 3 183099440 start lost T/C snv 1.8E-05 3.5E-05 0.700 0
dbSNP: rs762463137
rs762463137
MCCC1
1 1.000 0.120 3 183041570 frameshift variant -/C delins 4.0E-05; 8.0E-06 2.1E-05 0.700 1.000 2 2001 2005
dbSNP: rs757362635
rs757362635
MCCC1
1 1.000 0.120 3 183071290 missense variant A/G;T snv 2.4E-05; 1.2E-05 0.700 0
dbSNP: rs755328329
rs755328329
MCCC1
1 1.000 0.120 3 183041719 missense variant T/G snv 4.0E-06 0.700 1.000 11 2001 2016
dbSNP: rs754460336
rs754460336
MCCC1
1 1.000 0.120 3 183092486 missense variant G/A snv 6.4E-05 5.6E-05 0.700 0
dbSNP: rs754437245
rs754437245
MCCC1
1 1.000 0.120 3 183057342 missense variant C/T snv 1.6E-05 7.0E-06 0.700 1.000 11 2001 2016
dbSNP: rs750484977
rs750484977
MCCC1
1 1.000 0.120 3 183045516 stop gained G/C snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs748201122
rs748201122
MCCC1
1 1.000 0.120 3 183071310 missense variant C/A;T snv 4.0E-06 0.700 0
dbSNP: rs746500530
rs746500530
MCCC1
1 1.000 0.120 3 183057321 missense variant T/C snv 2.5E-05 1.4E-05 0.700 1.000 11 2001 2016
dbSNP: rs727504004
rs727504004
MCCC1
1 1.000 0.120 3 183071066 missense variant G/A snv 7.0E-06 0.700 0
dbSNP: rs727504002
rs727504002
MCCC1
1 1.000 0.120 3 183037286 frameshift variant C/- del 1.2E-05 2.8E-05 0.700 1.000 2 2005 2012
dbSNP: rs544349961
rs544349961
MCCC1
1 1.000 0.120 3 183041720 stop gained G/A snv 2.4E-05 4.9E-05 0.700 1.000 1 2012 2012
dbSNP: rs398124352
rs398124352
MCCC1
1 1.000 0.120 3 183039088 missense variant C/A;G;T snv 3.2E-05; 4.0E-06; 8.0E-06 0.700 1.000 11 2001 2016
dbSNP: rs398124350
rs398124350
MCCC1
1 1.000 0.120 3 183045422 frameshift variant C/- delins 0.700 0
dbSNP: rs376289130
rs376289130
MCCC1
1 1.000 0.120 3 183039101 missense variant A/C;G snv 4.0E-05 1.1E-04 0.700 1.000 11 2001 2016